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Aliases for TUBA4A Gene

Aliases for TUBA4A Gene

  • Tubulin Alpha 4a 2 3 5
  • Tubulin, Alpha 1 (Testis Specific) 2 3
  • Tubulin Alpha-1 Chain 3 4
  • Tubulin H2-Alpha 3 4
  • TUBA1 3 4
  • Testis-Specific Alpha-Tubulin 4
  • Tubulin Alpha-4A Chain 3
  • Tubulin, Alpha 1 2
  • Alpha-Tubulin 1 4
  • H2-ALPHA 3
  • ALS22 3

External Ids for TUBA4A Gene

Previous HGNC Symbols for TUBA4A Gene

  • TUBA1

Previous GeneCards Identifiers for TUBA4A Gene

  • GC02M219823
  • GC02M220114
  • GC02M211967

Summaries for TUBA4A Gene

Entrez Gene Summary for TUBA4A Gene

  • Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]

GeneCards Summary for TUBA4A Gene

TUBA4A (Tubulin Alpha 4a) is a Protein Coding gene. Diseases associated with TUBA4A include Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia and Robinow Syndrome, Autosomal Dominant 3. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Regulation of PLK1 Activity at G2/M Transition. GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBA1B.

UniProtKB/Swiss-Prot for TUBA4A Gene

  • Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.

Tocris Summary for TUBA4A Gene

  • Microtubules are cylindrical tubes of 20-25 nm in diameter. They are composed of protofilaments which are in turn composed of alpha- and beta-tubulin polymers. Each microtubule is polarized; at one end alpha-subunits are exposed (-) and at the other, beta-subunits are exposed (+).

Gene Wiki entry for TUBA4A Gene

Additional gene information for TUBA4A Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBA4A Gene

Genomics for TUBA4A Gene

Regulatory Elements for TUBA4A Gene

Enhancers for TUBA4A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H219121 1.5 Ensembl ENCODE dbSUPER 10.1 +153.1 153102 7.2 FOXA2 ATF1 ARID4B YBX1 TCF12 FOS ATF7 RUNX3 SP5 REST SLC23A3 NHEJ1 IHH LOC100129175 MIR375 FEV CRYBA2 LINC00608 CNPPD1 RETREG2
GH02H219362 0.8 ENCODE 10.5 -84.5 -84489 1 PAX8 BATF ZIC2 ZFHX2 GLIS2 ZNF366 POLR2A EED FOS ZNF600 PTPRN RESP18 MIR153-1 TUBA4A DNAJB2 TUBA4B SPEG ENSG00000232789 LOC105373883
GH02H219181 0.4 dbSUPER 11.1 +94.9 94920 3.1 POLR2A SLC23A3 MIR153-1 PTPRN TUBA4B TUBA4A DNAJB2 ATG9A ANKZF1 GC02M219186 CNPPD1
GH02H219151 0.4 dbSUPER 10.5 +125.9 125852 1 ZNF781 IHH RETREG2 CNPPD1 ZFAND2B CRYBA2 FEV ANKZF1 ATG9A LINC00608 PTPRN
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TUBA4A on UCSC Golden Path with GeneCards custom track

Genomic Locations for TUBA4A Gene

Genomic Locations for TUBA4A Gene
28,460 bases
Minus strand

Genomic View for TUBA4A Gene

Genes around TUBA4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBA4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBA4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBA4A Gene

Proteins for TUBA4A Gene

  • Protein details for TUBA4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Tubulin alpha-4A chain
    Protein Accession:
    Secondary Accessions:
    • A8MUB1
    • B3KNQ6
    • P05215

    Protein attributes for TUBA4A Gene

    448 amino acids
    Molecular mass:
    49924 Da
    Quaternary structure:
    • Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells. Interacts with CFAP157 (By similarity).
    • This tubulin does not have a C-terminal tyrosine.

    Alternative splice isoforms for TUBA4A Gene


neXtProt entry for TUBA4A Gene

Post-translational modifications for TUBA4A Gene

  • Acetylation of alpha chains at Lys-40 is located inside the microtubule lumen. This modification has been correlated with increased microtubule stability, intracellular transport and ciliary assembly.
  • Methylation of alpha chains at Lys-40 is found in mitotic microtubules and is required for normal mitosis and cytokinesis contributing to genomic stability.
  • Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).
  • Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).
  • Ubiquitination at posLast=326326
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TUBA4A Gene

Domains & Families for TUBA4A Gene

Gene Families for TUBA4A Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TUBA4A Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the tubulin family.
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBA4A: view

Function for TUBA4A Gene

Molecular function for TUBA4A Gene

UniProtKB/Swiss-Prot Function:
Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.

Phenotypes From GWAS Catalog for TUBA4A Gene

Gene Ontology (GO) - Molecular Function for TUBA4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA --
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0005515 protein binding IPI 16455083
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with TUBA4A: view
genes like me logo Genes that share phenotypes with TUBA4A: view

Human Phenotype Ontology for TUBA4A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TUBA4A Gene

Localization for TUBA4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBA4A Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TUBA4A gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TUBA4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA,IDA 21525035
genes like me logo Genes that share ontologies with TUBA4A: view

Pathways & Interactions for TUBA4A Gene

genes like me logo Genes that share pathways with TUBA4A: view

SIGNOR curated interactions for TUBA4A Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TUBA4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0002576 platelet degranulation TAS --
GO:0007010 cytoskeleton organization IEA --
GO:0007017 microtubule-based process IEA --
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
genes like me logo Genes that share ontologies with TUBA4A: view

Drugs & Compounds for TUBA4A Gene

(23) Drugs for TUBA4A Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cabazitaxel Approved Pharma inhibitor, Target, binder 0
Vincristine Approved, Investigational Pharma binder, Target, inhibitor Microtubule disrupter,antitumor agent 954
Podofilox Approved Pharma Target, inhibitor 0
Colchicine Approved Pharma Antagonist Tubulin Inhibitor 116
Griseofulvin Approved, Vet_approved Pharma 6

(2) Additional Compounds for TUBA4A Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for TUBA4A Gene

Compound Action Cas Number
MPC 6827 hydrochloride Inhibitor of microtubule polymerization; antimitotic and antitumor 917369-31-4
Nocodazole Microtubule inhibitor 31430-18-9
Noscapine hydrochloride Tubulin inhibitor; induces apoptosis 912-60-7
Taxol Promotes assembly and inhibits disassembly of microtubules 33069-62-4
Vinblastine sulfate Disrupts microtubules 143-67-9

(11) ApexBio Compounds for TUBA4A Gene

Compound Action Cas Number
Cabazitaxel 183133-96-2
CK-636 Arp2/3 complex inhibitor 442632-72-6
Colchicine Tubulin Inhibitor 64-86-8
CYT997 (Lexibulin) 917111-44-5
Epothilone A Microtubule stabilizing macrolide 152044-53-6
Fosbretabulin (Combretastatin A4 Phosphate (CA4P)) Disodium 168555-66-6
Griseofulvin 126-07-8
INH6 1001753-24-7
MPC 6827 hydrochloride Potent microtubule inhibitor 917369-31-4
Plinabulin (NPI-2358) Tumor cell lines inhibitor 714272-27-2
Vinflunine Tartrate 1201898-17-0
genes like me logo Genes that share compounds with TUBA4A: view

Drug Products

Transcripts for TUBA4A Gene

Unigene Clusters for TUBA4A Gene

Tubulin, alpha 4a:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TUBA4A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b
SP1: -

Relevant External Links for TUBA4A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TUBA4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TUBA4A Gene

mRNA differential expression in normal tissues according to GTEx for TUBA4A Gene

This gene is overexpressed in Whole Blood (x9.1) and Muscle - Skeletal (x6.3).

Protein differential expression in normal tissues from HIPED for TUBA4A Gene

This gene is overexpressed in Platelet (14.5), Brain (11.8), and Frontal cortex (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TUBA4A Gene

Protein tissue co-expression partners for TUBA4A Gene

NURSA nuclear receptor signaling pathways regulating expression of TUBA4A Gene:


SOURCE GeneReport for Unigene cluster for TUBA4A Gene:


Evidence on tissue expression from TISSUES for TUBA4A Gene

  • Nervous system(5)
  • Blood(4.4)
  • Liver(4.4)
  • Lung(4.4)
  • Muscle(3.4)
  • Intestine(2.7)
  • Stomach(2.7)
  • Heart(2.6)
  • Skin(2.6)
  • Kidney(2.3)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with TUBA4A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBA4A Gene

Orthologs for TUBA4A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBA4A Gene

Organism Taxonomy Gene Similarity Type Details
(Monodelphis domestica)
Mammalia TUBA4A 34
  • 100 (a)
(Pan troglodytes)
Mammalia TUBA4A 33 34
  • 99.85 (n)
(Bos Taurus)
Mammalia TUBA4A 33 34
  • 94.35 (n)
(Canis familiaris)
Mammalia TUBA4A 33 34
  • 93.01 (n)
(Mus musculus)
Mammalia Tuba4a 33 16 34
  • 92.56 (n)
(Rattus norvegicus)
Mammalia Tuba4a 33
  • 92.19 (n)
(Gallus gallus)
Aves -- 34
  • 95 (a)
-- 34
  • 92 (a)
LOC100857214 33
  • 86.53 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 97 (a)
-- 34
  • 97 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tuba4b 33
  • 84.9 (n)
(Danio rerio)
Actinopterygii tuba8l2 34
  • 94 (a)
tuba8l3 33
  • 81.55 (n)
fruit fly
(Drosophila melanogaster)
Insecta alphaTub85E 34
  • 94 (a)
(Caenorhabditis elegans)
Secernentea mec-12 34
  • 91 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB1 36
(Glycine max)
eudicotyledons Gma.16674 33
(Oryza sativa)
Liliopsida Os.21762 33
bread mold
(Neurospora crassa)
Ascomycetes NCU09132 33
  • 67.95 (n)
Species where no ortholog for TUBA4A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TUBA4A Gene

Gene Tree for TUBA4A (if available)
Gene Tree for TUBA4A (if available)

Paralogs for TUBA4A Gene

Variants for TUBA4A Gene

Sequence variations from dbSNP and Humsavar for TUBA4A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs368743618 Pathogenic, Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208] 219,250,552(+) GATGG(C/T)GGTCG downstream-variant-500B, reference, missense
rs730880025 Pathogenic, Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208] 219,250,741(-) TGTAC(C/T)GTGGA downstream-variant-500B, reference, missense
rs730880026 Pathogenic, Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208] 219,250,740(-) GTACC(A/G)TGGAG downstream-variant-500B, reference, missense
rs730880028 Pathogenic, Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208] 219,251,056(-) GCCGC(C/T)GCAAC reference, missense
rs730880029 Pathogenic, Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208] 219,251,266(-) GGGGC(A/C)CTGGC upstream-variant-2KB, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for TUBA4A Gene

Variant ID Type Subtype PubMed ID
nsv963775 CNV duplication 23825009
nsv954842 CNV deletion 24416366
nsv834543 CNV loss 17160897
nsv508885 CNV insertion 20534489
esv3893555 CNV loss 25118596

Variation tolerance for TUBA4A Gene

Residual Variation Intolerance Score: 11.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.13; 2.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TUBA4A Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBA4A Gene

Disorders for TUBA4A Gene

MalaCards: The human disease database

(10) MalaCards diseases for TUBA4A Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
  • amyotrophic lateral sclerosis 22, with or without frontotemporal dementia
robinow syndrome, autosomal dominant 3
  • autosomal dominant robinow syndrome 3
robinow syndrome, autosomal dominant 1
  • autosomal dominant robinow syndrome 1
retinitis pigmentosa 49
  • rp49
papillary craniopharyngioma
  • craniopharyngioma, papillary
- elite association - COSMIC cancer census association via MalaCards


  • Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS22 may develop frontotemporal dementia. {ECO:0000269 PubMed:25374358}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TUBA4A

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TUBA4A: view

No data available for Genatlas for TUBA4A Gene

Publications for TUBA4A Gene

  1. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. (PMID: 25374358) Smith BN … Landers JE (Neuron 2014) 3 4 60
  2. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 45 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Alternative 5' exons either provide or deny an initiator methionine codon to the same alpha-tubulin coding region. (PMID: 3029670) Dobner PR … Villa-Komaroff L (Nucleic acids research 1987) 3 4 60

Products for TUBA4A Gene

Sources for TUBA4A Gene

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